A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5236379



Internal ID8328114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:13800625..13802049hg38UCSC Ensembl
Outerchr17:13703942..13705366hg19UCSC Ensembl
Outerchr17:13644667..13646091hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381425
hg191425
hg181425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2615328
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5236379
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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